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Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexif...

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Detalles Bibliográficos
Autores principales: Kilgore, David A., Sanders, Riley, Uwaydat, Sami
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747081/
https://www.ncbi.nlm.nih.gov/pubmed/33437232
http://dx.doi.org/10.1159/000510013
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author Kilgore, David A.
Sanders, Riley
Uwaydat, Sami
author_facet Kilgore, David A.
Sanders, Riley
Uwaydat, Sami
author_sort Kilgore, David A.
collection PubMed
description Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexiform neurofibromas, and choroidal nodules. We present 2 cases of NF1 with presentations that may represent underreported retinal abnormalities occurring in NF1. Case 1 presents a patient who developed spontaneous peripheral retinal dialysis with subsequent retinal detachment; case 2 discusses a patient with multiple pigmented choroidal lesions bilaterally.
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spelling pubmed-77470812021-01-11 Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1 Kilgore, David A. Sanders, Riley Uwaydat, Sami Case Rep Ophthalmol Case Report Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexiform neurofibromas, and choroidal nodules. We present 2 cases of NF1 with presentations that may represent underreported retinal abnormalities occurring in NF1. Case 1 presents a patient who developed spontaneous peripheral retinal dialysis with subsequent retinal detachment; case 2 discusses a patient with multiple pigmented choroidal lesions bilaterally. S. Karger AG 2020-11-09 /pmc/articles/PMC7747081/ /pubmed/33437232 http://dx.doi.org/10.1159/000510013 Text en Copyright © 2020 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Kilgore, David A.
Sanders, Riley
Uwaydat, Sami
Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1
title Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1
title_full Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1
title_fullStr Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1
title_full_unstemmed Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1
title_short Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1
title_sort novel and unusual retinal findings in two patients with neurofibromatosis type 1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747081/
https://www.ncbi.nlm.nih.gov/pubmed/33437232
http://dx.doi.org/10.1159/000510013
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